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Select item 106619911.

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki Ura

Hum Genome Var. 2023; 10: 29. Published online 2023 Nov 20. doi: 10.1038/s41439-023-00257-6

PMCID:: PMC10661991

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Select item 106356162.

Skin Allograft after Bone Marrow Transplantation of Patient with Recessive Dystrophic Epidermolysis Bullosa

Felwa A. AlMarshad, Abdullah M. AlZahrani, Nehal A. Mahabbat, Eman M. AlShammari, Saud A. AlObaida, Ali A. AlMalaq

Plast Reconstr Surg Glob Open. 2023 Nov; 11(11): e5389. Published online 2023 Nov 9. doi: 10.1097/GOX.0000000000005389

PMCID:: PMC10635616

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Select item 106307793.

CRISPR-Cas9-based non-viral gene editing therapy for topical treatment of recessive dystrophic epidermolysis bullosa

Xianqing Wang, Xi Wang, Yinghao Li, Sigen A, Bei Qiu, Albina Bushmalyova, Zhonglei He, Wenxin Wang, Irene Lara-Sáez

Mol Ther Methods Clin Dev. 2023 Dec 14; 31: 101134. Published online 2023 Oct 13. doi: 10.1016/j.omtm.2023.101134

PMCID:: PMC10630779

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Select item 105912634.

CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa

Farzad Alipour, Mana Ahmadraji, Elham Yektadoust, Parvaneh Mohammadi, Hossein Baharvand, Mohsen Basiri

Cell J. 2023 Oct; 25(10): 665–667. Published online 2023 Oct 9. doi: 10.22074/CELLJ.2023.1989321.1225

PMCID:: PMC10591263

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Select item 104109285.

Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study

Jemima E. Mellerio, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, Marieta Papanikolaou, John A. McGrath, Yanzhong Wang, Anna E. Martinez, Eunice Jeffs

Orphanet J Rare Dis. 2023; 18: 235. Published online 2023 Aug 9. doi: 10.1186/s13023-023-02817-z

PMCID:: PMC10410928

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Select item 103597076.

Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report

Cahyani Gita Ambarsari, Retno Palupi-Baroto, Fira Alyssa Gabriella Sinuraya, Elvi Suryati, Etty Widyastuti, Suci Widhiati

Case Rep Nephrol Dial. 2023 Jan-Dec; 13(1): 75–83. Published online 2023 Jul 14. doi: 10.1159/000530875

PMCID:: PMC10359707

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Select item 103403877.

Biomarker Discovery in Rare Malignancies: Development of a miRNA Signature for RDEB-cSCC

Roland Zauner, Monika Wimmer, Sabine Atzmueller, Johannes Proell, Norbert Niklas, Michael Ablinger, Manuela Reisenberger, Thomas Lettner, Julia Illmer, Sonja Dorfer, Ulrich Koller, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Verena Wally

Cancers (Basel) 2023 Jul; 15(13): 3286. Published online 2023 Jun 22. doi: 10.3390/cancers15133286

PMCID:: PMC10340387

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Select item 102920468.

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa

Laura TREFZER, Maria E. HESS, Lena SCHOLTEN, Kristin TECHNAU-HAFSI, Frank MEISS, Melanie BOERRIES, Cristina HAS, David RAFEI-SHAMSABADI

Acta Derm Venereol. 2023; 103: 4870. Published online 2023 Jun 20. doi: 10.2340/actadv.v103.4870

PMCID:: PMC10292046

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Select item 102528309.

Kinetics of Wound Development and Healing Suggests a Skin-Stabilizing Effect of Allogeneic ABCB5⁺ Mesenchymal Stromal Cell Treatment in Recessive Dystrophic Epidermolysis Bullosa

Elke Niebergall-Roth, Kathrin Dieter, Cristina Daniele, Silvia Fluhr, Maria Khokhrina, Ines Silva, Christoph Ganss, Markus H. Frank, Mark A. Kluth

Cells. 2023 Jun; 12(11): 1468. Published online 2023 May 24. doi: 10.3390/cells12111468

PMCID:: PMC10252830

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Select item 1018786010.

A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis

Katelyn McCann, Karen Wiss, Jeffrey Covington, Vanessa Laffert, Kerri B. Gosselin

JPGN Rep. 2023 May; 4(2): e313. Published online 2023 Apr 26. doi: 10.1097/PG9.0000000000000313

PMCID:: PMC10187860

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Select item 1017071011.

Maintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings under culture conditions

Cristian De Gregorio, Evelyng Catalán, Gabriel Garrido, Pilar Morandé, Jimena Castillo Bennett, Catalina Muñoz, Glenda Cofré, Ya-Lin Huang, Bárbara Cuadra, Paola Murgas, Margarita Calvo, Fernando Altermatt, María Joao Yubero, Francis Palisson, Andrew P. South, Marcelo Ezquer, Ignacia Fuentes

Biol Res. 2023; 56: 23. Published online 2023 May 10. doi: 10.1186/s40659-023-00437-2

PMCID:: PMC10170710

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Select item 1000249112.

COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents

Bernadette Liemberger, Johannes Bischof, Michael Ablinger, Stefan Hainzl, Eva M. Murauer, Nina Lackner, Patricia Ebner, Thomas Kocher, Alexander Nyström, Verena Wally, Elisabeth Mayr, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Ulrich Koller

Int J Mol Sci. 2023 Mar; 24(5): 4341. Published online 2023 Feb 22. doi: 10.3390/ijms24054341

PMCID:: PMC10002491

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Select item 984355713.

COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus

Xuliang Zhao, Weiwei Sun, Zhihui Cui, Min Yu, Qi Wang, Pengcheng Wang, Ruixia Tian

Mol Syndromol. 2023 Jan; 13(6): 511–516. Published online 2022 Jun 14. doi: 10.1159/000525047

PMCID:: PMC9843557

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Select item 982705014.

Recessive dystrophic epidermolysis bullosa (RDEB): Oral manifestation and management rules in oral surgery: A case report

Oumayma El Yacoubi, Saliha Chbicheb

Int J Surg Case Rep. 2023 Jan; 102: 107848. Published online 2022 Dec 23. doi: 10.1016/j.ijscr.2022.107848

PMCID:: PMC9827050

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Select item 976123315.

Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment

Alessandro Milani, Annalisa Pace, Giannicola Iannella, Alessandro Corsi, Salvatore Cocuzza, Antonino Maniaci, Antonio Greco, Giuseppe Magliulo

Clin Med Insights Case Rep. 2022; 15: 11795476221131196. Published online 2022 Dec 16. doi: 10.1177/11795476221131196

PMCID:: PMC9761233

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Select item 967648416.

Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family

Yu Wang, Zhen Song, Lihua Zhang, Na Li, Jie Zhao, Ruifang Yang, Shuhua Ji, Ping Sun

Front Pediatr. 2022; 10: 941201. Published online 2022 Nov 7. doi: 10.3389/fped.2022.941201

PMCID:: PMC9676484

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Select item 960031017.

Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

Alfred Klausegger, Niklas Jeschko, Markus Grammer, Jan Cemper-Kiesslich, Franz Neuhuber, Anja Diem, Hannelore Breitenbach-Koller, Gabriele Sander, Dieter Kotzot, Johann Wolfgang Bauer, Martin Laimer

Diagnostics (Basel) 2022 Oct; 12(10): 2460. Published online 2022 Oct 11. doi: 10.3390/diagnostics12102460

PMCID:: PMC9600310

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Select item 957480718.

Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa

Jodi Y. So, Jaron Nazaroff, Chinonso V. Iwummadu, Nicki Harris, Emily S. Gorell, Shivali Fulchand, Irene Bailey, Daniel McCarthy, Zurab Siprashvili, M. Peter Marinkovich, Jean Y. Tang, Albert S. Chiou

Orphanet J Rare Dis. 2022; 17: 377. Published online 2022 Oct 17. doi: 10.1186/s13023-022-02546-9

PMCID:: PMC9574807

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Select item 957414919.

Topical Gentamicin 0.1% Promotes Collagen 7 Expression in Recessive Dystrophic Epidermolysis Bullosa

Rahul Mahajan, Seema Manjunath, Manoj G. Madakshira, Dipankar De, Sanjeev Handa, Debajyoti Chatterjee, Bishan D. Radotra

Indian Dermatol Online J. 2022 Jul-Aug; 13(4): 480–483. Published online 2022 Jun 24. doi: 10.4103/idoj.idoj_554_21

PMCID:: PMC9574149

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Select item 954154020.

T‐cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients

Vitali Alexeev, Leonie Huitema, Taylor Phillips, Rodrigo Cepeda, Diego de los Cobos, Regina Isabella Matus Perez, Mauricio Salas‐Garza, Oscar R. Fajardo‐Ramirez, Franziska Ringpfeil, Jouni Uitto, Julio Cesar Salas‐Alanis, Olga Igoucheva

Exp Dermatol. 2022 Sep; 31(9): 1431–1442. Published online 2022 Jun 6. doi: 10.1111/exd.14615